List of variants in gene LOC112533672, UNC13D studied for immune system disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 144

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HGVS	dbSNP	gnomAD frequency
NM_199242.3(UNC13D):c.2830+37C>G	rs2290769	0.19638
NM_199242.3(UNC13D):c.2943G>A (p.Glu981=)	rs35628234	0.07237
NM_199242.3(UNC13D):c.2782C>T (p.Arg928Cys)	rs35037984	0.01713
NM_199242.3(UNC13D):c.2831-20A>T	rs149809768	0.00199
NM_199242.3(UNC13D):c.2828A>G (p.Asn943Ser)	rs147748627	0.00158
NM_199242.3(UNC13D):c.2893G>A (p.Ala965Thr)	rs144744401	0.00058
NM_199242.3(UNC13D):c.2710-8C>G	rs545824447	0.00057
NM_199242.3(UNC13D):c.2783G>A (p.Arg928His)	rs113461073	0.00050
NM_199242.3(UNC13D):c.2830+7G>A	rs201023196	0.00029
NM_199242.3(UNC13D):c.2709+6G>T	rs199529082	0.00014
NM_199242.3(UNC13D):c.2764G>A (p.Ala922Thr)	rs763375427	0.00009
NM_199242.3(UNC13D):c.2654C>T (p.Ala885Val)	rs539360933	0.00005
NM_199242.3(UNC13D):c.2813T>A (p.Leu938Gln)	rs368779636	0.00005
NM_199242.3(UNC13D):c.2676C>A (p.Ile892=)	rs2064865151	0.00004
NM_199242.3(UNC13D):c.2710-12T>C	rs374302602	0.00004
NM_199242.3(UNC13D):c.2768C>G (p.Ser923Cys)	rs200441303	0.00004
NM_199242.3(UNC13D):c.2897G>A (p.Arg966Gln)	rs761351250	0.00004
NM_199242.3(UNC13D):c.2917A>G (p.Lys973Glu)	rs373478612	0.00004
NM_199242.3(UNC13D):c.2954+17C>T	rs538544253	0.00004
NM_199242.3(UNC13D):c.2710-17C>T	rs368196410	0.00003
NM_199242.3(UNC13D):c.2761C>T (p.Arg921Cys)	rs373079371	0.00003
NM_199242.3(UNC13D):c.2709+16C>T	rs747021679	0.00002
NM_199242.3(UNC13D):c.2799C>T (p.Ser933=)	rs752372722	0.00002
NM_199242.3(UNC13D):c.2817C>T (p.Pro939=)	rs565976477	0.00002
NM_199242.3(UNC13D):c.2839G>A (p.Asp947Asn)	rs778921171	0.00002
NM_199242.3(UNC13D):c.2954+13C>T	rs772473891	0.00002
NM_199242.3(UNC13D):c.2954+14G>A	rs1194495416	0.00002
NM_199242.3(UNC13D):c.2954+3G>T	rs924698827	0.00002
NM_199242.3(UNC13D):c.2637G>A (p.Arg879=)	rs1372708758	0.00001
NM_199242.3(UNC13D):c.2666G>A (p.Arg889Gln)	rs371000216	0.00001
NM_199242.3(UNC13D):c.2672T>C (p.Leu891Pro)	rs1359661881	0.00001
NM_199242.3(UNC13D):c.2677C>T (p.Arg893Trp)	rs886412971	0.00001
NM_199242.3(UNC13D):c.2678G>A (p.Arg893Gln)	rs759502435	0.00001
NM_199242.3(UNC13D):c.2679G>C (p.Arg893=)	rs1011534388	0.00001
NM_199242.3(UNC13D):c.2695C>T (p.Arg899Ter)	rs766657895	0.00001
NM_199242.3(UNC13D):c.2754C>G (p.Ala918=)	rs1217118688	0.00001
NM_199242.3(UNC13D):c.2756C>T (p.Ser919Phe)	rs748410297	0.00001
NM_199242.3(UNC13D):c.2795T>C (p.Leu932Pro)	rs760552006	0.00001
NM_199242.3(UNC13D):c.2800G>A (p.Ala934Thr)	rs534473771	0.00001
NM_199242.3(UNC13D):c.2830+14G>A	rs750433063	0.00001
NM_199242.3(UNC13D):c.2830+2del	rs1287388302	0.00001
NM_199242.3(UNC13D):c.2831-19C>A	rs369860531	0.00001
NM_199242.3(UNC13D):c.2851C>T (p.Gln951Ter)	rs2064860460	0.00001
NM_199242.3(UNC13D):c.2862G>A (p.Leu954=)	rs777951171	0.00001
NM_199242.3(UNC13D):c.2953T>C (p.Phe985Leu)	rs775943310	0.00001
NM_199242.3(UNC13D):c.2954+20C>T	rs1339152500	0.00001
NM_199242.3(UNC13D):c.2626-12A>C
NM_199242.3(UNC13D):c.2626-7T>G
NM_199242.3(UNC13D):c.2638G>C (p.Asp880His)
NM_199242.3(UNC13D):c.2645A>G (p.Glu882Gly)	rs2143865857
NM_199242.3(UNC13D):c.2649G>A (p.Leu883=)
NM_199242.3(UNC13D):c.2649G>C (p.Leu883=)
NM_199242.3(UNC13D):c.2655G>A (p.Ala885=)
NM_199242.3(UNC13D):c.2655G>T (p.Ala885=)
NM_199242.3(UNC13D):c.2658C>T (p.Ala886=)
NM_199242.3(UNC13D):c.2660C>T (p.Ser887Phe)	rs1037729939
NM_199242.3(UNC13D):c.2663G>A (p.Ser888Asn)	rs764514797
NM_199242.3(UNC13D):c.2665C>G (p.Arg889Gly)	rs756588179
NM_199242.3(UNC13D):c.2665C>T (p.Arg889Trp)	rs756588179
NM_199242.3(UNC13D):c.2666G>C (p.Arg889Pro)	rs371000216
NM_199242.3(UNC13D):c.2688C>T (p.Phe896=)
NM_199242.3(UNC13D):c.2700C>A (p.Ile900=)
NM_199242.3(UNC13D):c.2703G>A (p.Gln901=)
NM_199242.3(UNC13D):c.2704C>T (p.Gln902Ter)
NM_199242.3(UNC13D):c.2709+11T>C
NM_199242.3(UNC13D):c.2709+12C>A
NM_199242.3(UNC13D):c.2709+16C>G	rs747021679
NM_199242.3(UNC13D):c.2709+17G>A
NM_199242.3(UNC13D):c.2709+17G>T
NM_199242.3(UNC13D):c.2709+19A>C
NM_199242.3(UNC13D):c.2709+1G>A	rs1555600214
NM_199242.3(UNC13D):c.2709+1G>T
NM_199242.3(UNC13D):c.2709+20C>T
NM_199242.3(UNC13D):c.2709+2T>A	rs2143865621
NM_199242.3(UNC13D):c.2709+7C>A
NM_199242.3(UNC13D):c.2710-14G>A
NM_199242.3(UNC13D):c.2710-18C>A	rs1555600186
NM_199242.3(UNC13D):c.2710-19C>A
NM_199242.3(UNC13D):c.2710-19C>G
NM_199242.3(UNC13D):c.2710-2A>G	rs910650073
NM_199242.3(UNC13D):c.2710-36TGACCCTGC[3]
NM_199242.3(UNC13D):c.2710-5C>G
NM_199242.3(UNC13D):c.2710-9C>A
NM_199242.3(UNC13D):c.2715A>G (p.Glu905=)
NM_199242.3(UNC13D):c.2716dup (p.Thr906fs)
NM_199242.3(UNC13D):c.2718C>T (p.Thr906=)
NM_199242.3(UNC13D):c.2719_2722dup (p.Ser908fs)
NM_199242.3(UNC13D):c.2724dup (p.Glu909Ter)
NM_199242.3(UNC13D):c.2730G>A (p.Glu910=)
NM_199242.3(UNC13D):c.2732T>C (p.Leu911Pro)	rs576759232
NM_199242.3(UNC13D):c.2733G>A (p.Leu911=)
NM_199242.3(UNC13D):c.2742G>A (p.Val914=)	rs777262533
NM_199242.3(UNC13D):c.2742G>T (p.Val914=)
NM_199242.3(UNC13D):c.2748C>T (p.Val916=)	rs2143865000
NM_199242.3(UNC13D):c.2761C>G (p.Arg921Gly)
NM_199242.3(UNC13D):c.2763C>T (p.Arg921=)
NM_199242.3(UNC13D):c.2769T>C (p.Ser923=)
NM_199242.3(UNC13D):c.2780T>G (p.Leu927Arg)
NM_199242.3(UNC13D):c.2787G>A (p.Val929=)
NM_199242.3(UNC13D):c.2791C>G (p.Leu931Val)	rs2064862566
NM_199242.3(UNC13D):c.2799del (p.Ser933fs)
NM_199242.3(UNC13D):c.2800G>C (p.Ala934Pro)	rs534473771
NM_199242.3(UNC13D):c.2802C>T (p.Ala934=)
NM_199242.3(UNC13D):c.2811G>A (p.Leu937=)
NM_199242.3(UNC13D):c.2811G>C (p.Leu937=)
NM_199242.3(UNC13D):c.2814G>T (p.Leu938=)
NM_199242.3(UNC13D):c.2815C>T (p.Pro939Ser)
NM_199242.3(UNC13D):c.2818C>T (p.Leu940=)
NM_199242.3(UNC13D):c.2819del (p.Leu940fs)
NM_199242.3(UNC13D):c.2830+11G>A
NM_199242.3(UNC13D):c.2830+11G>C
NM_199242.3(UNC13D):c.2830+18T>C	rs1372251630
NM_199242.3(UNC13D):c.2830+18T>G
NM_199242.3(UNC13D):c.2830+6T>C	rs1347480374
NM_199242.3(UNC13D):c.2831-11C>T
NM_199242.3(UNC13D):c.2831-13G>A	rs1005334519
NM_199242.3(UNC13D):c.2831-14C>T
NM_199242.3(UNC13D):c.2831-15C>T	rs2143864252
NM_199242.3(UNC13D):c.2831-17C>T
NM_199242.3(UNC13D):c.2831-19C>T	rs369860531
NM_199242.3(UNC13D):c.2831-4C>T
NM_199242.3(UNC13D):c.2832C>T (p.Gly944=)
NM_199242.3(UNC13D):c.2838C>T (p.Ser946=)
NM_199242.3(UNC13D):c.2841C>A (p.Asp947Glu)	rs1256102965
NM_199242.3(UNC13D):c.2842C>T (p.Pro948Ser)
NM_199242.3(UNC13D):c.2844C>G (p.Pro948=)
NM_199242.3(UNC13D):c.2847T>C (p.Phe949=)
NM_199242.3(UNC13D):c.2847del (p.Phe949fs)
NM_199242.3(UNC13D):c.2854C>T (p.Leu952=)
NM_199242.3(UNC13D):c.2859C>T (p.Thr953=)
NM_199242.3(UNC13D):c.2868del (p.Arg957fs)
NM_199242.3(UNC13D):c.2869A>C (p.Arg957=)
NM_199242.3(UNC13D):c.2871G>A (p.Arg957=)
NM_199242.3(UNC13D):c.2892C>T (p.Ala964=)
NM_199242.3(UNC13D):c.2896C>G (p.Arg966Gly)
NM_199242.3(UNC13D):c.2896C>T (p.Arg966Trp)	rs118049905
NM_199242.3(UNC13D):c.2908A>G (p.Lys970Glu)	rs2064859001
NM_199242.3(UNC13D):c.2910G>A (p.Lys970=)
NM_199242.3(UNC13D):c.2922C>T (p.Asp974=)	rs2143863995
NM_199242.3(UNC13D):c.2931A>G (p.Pro977=)
NM_199242.3(UNC13D):c.2932T>C (p.Leu978=)
NM_199242.3(UNC13D):c.2945C>A (p.Thr982Asn)	rs2064858717
NM_199242.3(UNC13D):c.2954+7G>T	rs1182241695
NM_199242.3(UNC13D):c.2954+8G>C	rs1483854859

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